Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer


Reid S., Schindler D., Hanenberg H., Barker K., Hanks S., Kalb R., ...More

NATURE GENETICS, vol.39, no.2, pp.162-164, 2007 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 2
  • Publication Date: 2007
  • Doi Number: 10.1038/ng1947
  • Title of Journal : NATURE GENETICS
  • Page Numbers: pp.162-164

Abstract

PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA- D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 ( also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.